Premature arteriosclerosis and thromboembolic events are well-known complications of homozygous homocystinuria due to cystathionine synthase deficiency. It is unknown whether heterozygosity for homocystinuria predisposes to premature vascular disease. We explored the frequency of excessive homocysteine accumulation after standardized methionine loading in 75 patients presenting with clinical signs of ischemic disease before the age of 50:25 with occlusive peripheral arterial disease, 25 with occlusive cerebrovascular disease, and 25 with myocardial infarction. In seven patients in each of the first two groups but in none of the patients in the third group, heterozygosity for homocystinuria was established on the basis of pathological homocysteinemia after methionine loading and cystathionine synthase deficiency in skin fibroblast cultures. Because the frequency of heterozygosity for homocystinuria in the normal population is 1 in 70 at the most, we conclude that this condition predisposes to the development of premature occlusive arterial disease, causing intermittent claudication, renovascular hypertension, and ischemic cerebrovascular disease.
Among adults aged 18 through 50 years, 20-year mortality following acute stroke was relatively high compared with expected mortality. These findings may warrant further research evaluating secondary prevention strategies in these patients.
Even 11 years after ischemic stroke in young adults, a substantial proportion of patients must cope with permanent cognitive deficits. These results have implications for information given to patients and rehabilitation services.
General insight into the frequency and gravity of cognitive dysfunctions following stroke and its influencing factors is still lacking. With an extensive neuropsychological battery 229 patients who had suffered a stroke were assessed. More than 70% of the patients showed a marked slowness of information processing, whereas at least 40% of all patients had difficulty with memory, visuospatial and constructive tasks, language skills, and arithmetic. A significant effect was found for side and type of stroke, gender, and the presence of aphasia. No significant effect was found for cortical versus subcortical lesions, having one versus multiple strokes, having lowered consciousness on admission, the presence of risk factors, a paresis of the hand, or the interval between the stroke and the neuropsychological assessment.
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